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rs121917921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917921(C;T)
Make rs121917921(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165991927
GeneLOC102724058, SCN1A
is asnp
is mentioned by
dbSNPrs121917921
ebirs121917921
HLIrs121917921
Exacrs121917921
Varsomers121917921
Maprs121917921
PheGenIrs121917921
hapmaprs121917921
1000 genomesrs121917921
hgdprs121917921
ensemblrs121917921
gopubmedrs121917921
geneviewrs121917921
scholarrs121917921
googlers121917921
pharmgkbrs121917921
gwascentralrs121917921
openSNPrs121917921
23andMers121917921
23andMe allrs121917921
SNP Nexus

SNPshotrs121917921
SNPdbers121917921
MSV3drs121917921
GWAS Ctlgrs121917921
Max Magnitude0
ClinVar
Risk rs121917921(T;T)
Alt rs121917921(T;T)
Reference rs121917921(C;C)
Significance Pathogenic
Disease Severe myoclonic epilepsy in infancy not provided
Variation info
Gene LOC102724058 SCN1A
CLNDBN Severe myoclonic epilepsy in infancy not provided
Reversed 1
HGVS NC_000002.11:g.166848437G>A
CLNSRC UniProtKB (variants)
CLNACC RCV000059446.2, RCV000189000.2,